| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neuronal ceroid lipofuscinosis 1 | |
Click to view in NCBI Gene